ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.58+265G>A

gnomAD frequency: 0.05102  dbSNP: rs73900787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV002264817 SCV002546402 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-01-22 reviewed by expert panel curation Intronic variant with a MAF of 0.06181 (6.2%, 538/8704 alleles) in the African/African-American subpopulation of the gnomAD v2.1.1 cohort (≥ 0.0015 (0.15%)) (BA1). In addition, this variant is reported in 44 homozygotes in gnomAD v2.1.1 (BP2). Splice AI predicts no impact on splicing ≤ 0.20 (score: 0.00-0.06) (BP4). Intronic variants which SpliceAI ≤ 0.20 AND evolutionary conservation prediction algorithms predict the site as not conserved (phyloP100 way (GRCh38/hg38) ≤2.0). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2, BP4 and BP7.
GeneDx RCV001537390 SCV001754267 benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537390 SCV005310056 benign not provided criteria provided, single submitter not provided

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